Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortes...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:BMJ Open
Główni autorzy: Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, Grazia D'Angelo, Maria, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella
Format: Artigo
Język:Inglês
Wydane: BMJ Publishing Group 2016
Hasła przedmiotowe:
Neurology
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716236/
https://ncbi.nlm.nih.gov/pubmed/26733561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-007798
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